ClinVar Miner

Variants from Kariminejad - Najmabadi Pathology & Genetics Center

Location: Iran  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
401 589 389 0 0 1373

Gene and significance breakdown #

Total genes and gene combinations: 548
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
CAPN3 23 21 4 48
DYSF 15 17 14 46
DMD 24 14 3 40
CLCN1 6 10 7 23
LAMA2 11 10 2 23
RYR1 3 11 5 19
SGCA 5 7 5 17
SPG11 6 6 5 17
COL6A2 3 7 6 16
SACS 2 7 7 16
TTN 1 6 8 15
LMNA 2 6 6 14
SYNE1 3 4 6 13
NEB 1 5 6 12
C17orf107, CHRNE 2 6 3 11
COLQ 2 7 2 11
ETFDH 2 7 1 10
COL6A1 4 1 4 9
MFN2 2 5 2 9
NF1 8 1 0 9
CHRNE 2 3 3 8
MME 1 4 3 8
MYO7A 4 4 0 8
PLEC 1 4 3 8
SGCG 3 3 2 8
SH3TC2 4 3 1 8
ANO5 1 5 1 7
ATM, C11orf65 5 2 0 7
FHL1 0 4 3 7
GDAP1 1 4 2 7
GJB1 4 2 1 7
GMPPB 2 4 1 7
GNE 2 5 0 7
MPZ 1 4 2 7
POMT1 2 0 5 7
SETX 1 0 6 7
SOD1 2 5 0 7
SPG7 2 3 2 7
TYR 4 3 0 7
ZFYVE26 0 6 1 7
ACADVL 2 4 0 6
AGL 2 4 0 6
ATM 5 1 0 6
BSCL2, HNRNPUL2-BSCL2 2 2 2 6
CEP290 6 0 0 6
COL6A3 0 2 4 6
FKRP 0 5 2 6
GAA 5 2 0 6
GFPT1 1 1 4 6
MYO15A 2 4 0 6
POLG 4 1 1 6
USH2A 5 1 0 6
ASAH1 0 3 2 5
CACNA1A 1 1 3 5
CHRNA1 0 2 3 5
DES 1 4 0 5
DNM2 1 1 3 5
DOK7 2 2 1 5
HSPB1 3 3 0 5
KIF5A 0 1 4 5
PLA2G6 2 3 0 5
PLEKHG5 0 1 4 5
SELENON 1 3 1 5
SGCD 1 2 2 5
TGM1 2 3 0 5
AP4E1 0 1 3 4
ASPM 4 0 0 4
BBS12 0 3 1 4
COL7A1 2 2 0 4
COQ4 0 0 4 4
DNAJB2 1 3 0 4
DYNC1H1 1 1 2 4
IGHMBP2 2 1 1 4
MTMR2 0 2 2 4
NEFL 1 1 2 4
PNKP 2 1 1 4
PRX 1 1 2 4
PYGM 0 2 2 4
RYR3 0 0 4 4
SBF2 0 3 1 4
TCAP 1 3 0 4
TK2 1 3 1 4
TRPV4 0 2 2 4
AARS1 0 0 3 3
ABCA4 1 2 0 3
ASTN2, TRIM32 0 2 1 3
BAG3 1 1 1 3
C19orf12 0 1 2 3
CACNA1S 1 1 1 3
CDC14A 1 2 0 3
CDH23 0 3 0 3
CHMP2B 0 1 2 3
CHRND 1 0 2 3
CLN6 1 2 0 3
COL1A1 1 2 0 3
CRPPA 0 0 3 3
DHTKD1 0 1 2 3
FKTN 0 2 1 3
GH-LCR, SCN4A 0 1 2 3
GJB2 3 0 0 3
GJC2 0 2 1 3
GNPTAB 2 1 0 3
HARS1 0 1 2 3
HINT1 1 2 0 3
JAG2 0 0 3 3
KCNQ1 3 0 0 3
KIF1A 1 0 2 3
KIF1B 0 0 3 3
LMOD3 0 1 2 3
MECP2 3 0 0 3
MICU1 3 0 0 3
MMUT 2 1 0 3
MYBPC1 0 1 2 3
MYH14 0 0 3 3
MYH7 1 0 2 3
MYPN 1 2 0 3
NALCN 1 2 0 3
NDRG1 0 2 1 3
NEB, RIF1 2 1 0 3
PIEZO2 1 0 2 3
PKHD1 3 0 0 3
PMP22 0 2 1 3
PNPLA2 1 1 1 3
POMGNT1, TSPAN1 0 1 2 3
POMT2 0 1 2 3
SAMD9L 0 1 2 3
SGCB 1 1 1 3
SLC12A6 0 2 1 3
SLC26A4 1 2 0 3
SLC52A2 0 2 1 3
SMCHD1 2 1 0 3
SORD 1 1 1 3
SPAST 3 0 0 3
SPTLC1 0 0 3 3
SRD5A3 2 1 0 3
TARDBP 2 0 1 3
TPP1 3 0 0 3
TRAPPC9 2 1 0 3
TWNK 0 1 2 3
VPS13B 1 2 0 3
WWOX 0 3 0 3
ACTA1 0 2 0 2
AGRN 1 0 1 2
AIFM1, RAB33A 0 1 1 2
ALS2 0 2 0 2
AMPD2 1 0 1 2
ANO10 1 0 1 2
ATL1 0 1 1 2
ATP13A2 0 0 2 2
BBS9 1 1 0 2
CAPN1 1 0 1 2
CAPN3, LOC126862115 1 0 1 2
CAPN3, LOC130056921 1 0 1 2
CDK10 1 1 0 2
CEP63, KY 0 1 1 2
CERS3 0 2 0 2
COL12A1 1 0 1 2
COL1A2 0 2 0 2
CPT2 1 0 1 2
CYP2U1 0 1 1 2
DCTN1 0 1 1 2
DNA2 0 1 1 2
DNAJB6 2 0 0 2
DPAGT1 0 1 1 2
EIF2B2 0 2 0 2
ERCC8 0 2 0 2
FANCA 1 1 0 2
FGD4 1 0 1 2
FIG4 0 0 2 2
FLNA 0 0 2 2
GALNS 0 2 0 2
GAN 0 1 1 2
GBE1 0 0 2 2
GBF1 0 0 2 2
GCDH 1 1 0 2
GDAP1, LOC130000622 1 1 0 2
GNAO1 2 0 0 2
INF2 0 0 2 2
KCNJ10 0 1 1 2
LAMB3 1 1 0 2
LIMS2 0 0 2 2
LRP4 0 1 1 2
MCOLN1 0 1 1 2
MEGF10 0 0 2 2
NGLY1 0 1 1 2
NPC1 1 1 0 2
OTOF 1 1 0 2
PMP2 0 1 1 2
PNPLA8 0 2 0 2
POGLUT1 0 1 1 2
POLR3B 1 1 0 2
PRPS1 0 1 1 2
PSEN1 2 0 0 2
PTEN 1 1 0 2
PTPN11 1 1 0 2
PTPRQ 0 2 0 2
RAPSN 0 2 0 2
REEP1 0 0 2 2
RPE65 1 1 0 2
SIGMAR1 0 0 2 2
STUB1 0 0 2 2
TBC1D24 0 2 0 2
TBCK 2 0 0 2
TGM6 0 1 1 2
TMPRSS3 0 2 0 2
TNNT1 0 2 0 2
TYMP 0 1 1 2
VPS13D 0 0 2 2
VRK1 1 0 1 2
VWA3B 0 0 2 2
​intergenic 0 1 0 1
AAAS 0 1 0 1
ABCA12 0 1 0 1
ABCD1, PLXNB3 0 1 0 1
ACE 0 1 0 1
ADA 0 1 0 1
ADGRG1 0 1 0 1
ADGRV1 0 1 0 1
ADSS1 0 1 0 1
AFG3L2 0 1 0 1
AGRN, LOC126805576 0 0 1 1
AGXT 0 1 0 1
AIPL1 0 1 0 1
ALDH18A1 0 1 0 1
ALDH7A1 0 1 0 1
ALMS1 1 0 0 1
AMPD2, LOC126805822 0 1 0 1
ANK3 0 1 0 1
ANKRD11 0 1 0 1
AP3B1 0 0 1 1
AP4B1 1 0 0 1
AP4M1 1 0 0 1
APTX 0 1 0 1
ARHGEF10 0 0 1 1
ARID1B 0 0 1 1
ARL6 0 1 0 1
ARSA 1 0 0 1
ARV1 0 1 0 1
ASPA, SPATA22 0 1 0 1
ATP1A1 0 0 1 1
ATP2B3 0 0 1 1
ATP6V1B1 0 1 0 1
ATP7B 0 1 0 1
ATRX 0 1 0 1
ATXN2 0 0 1 1
BBS1, ZDHHC24 0 1 0 1
BBS2 0 1 0 1
BBS7 1 0 0 1
BCKDHB 1 0 0 1
BICD2 0 0 1 1
BIN1 0 1 0 1
BMP1, LOC129999976 0 1 0 1
C10orf105, CDH23 0 1 0 1
C17orf107, CHRNE, MINK1 1 0 0 1
CACNA1C 0 0 1 1
CACNA1G 0 0 1 1
CAMK2B 1 0 0 1
CANT1 0 1 0 1
CASK 0 1 0 1
CAV3, OXTR 0 1 0 1
CBS 0 1 0 1
CC2D2A 0 1 0 1
CCDC78 0 0 1 1
CDKL5 0 1 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 1
CEACAM16 0 1 0 1
CEP290, RLIG1 0 1 0 1
CEP55 0 1 0 1
CERT1, POLK 0 0 1 1
CFAP96, UFSP2 0 1 0 1
CFTR 1 0 0 1
CHAT 0 1 0 1
CHAT, SLC18A3 0 0 1 1
CHMP1A 0 0 1 1
CHRNB1 0 0 1 1
CHRNE, LOC130060041 1 0 0 1
CHRNG 1 0 0 1
CLCN7 0 1 0 1
CLN3 0 1 0 1
CLN5 1 0 0 1
CNGA3 1 0 0 1
COL11A2 1 0 0 1
COL13A1 0 1 0 1
COL17A1 0 1 0 1
COL2A1 0 1 0 1
COMP 1 0 0 1
COQ8A 0 1 0 1
CRB1 0 1 0 1
CRBN 0 1 0 1
CREBBP 1 0 0 1
CRYAA 1 0 0 1
CRYAB 0 0 1 1
CTNNB1 0 1 0 1
CTSA 0 1 0 1
CTSK 0 1 0 1
CYB5R3 0 0 1 1
CYP7B1 1 0 0 1
DCX 1 0 0 1
DDHD1 0 1 0 1
DNMT1 0 0 1 1
DNMT3A 0 1 0 1
DOK7, LOC129992118 0 1 0 1
DSG1 0 1 0 1
DST 0 0 1 1
DYM 0 1 0 1
DYSF, LOC110121121 1 0 0 1
ECEL1 0 0 1 1
EMD 0 1 0 1
EPM2A 0 1 0 1
ERBB4 0 1 0 1
ERCC4 0 1 0 1
ERLIN1 0 0 1 1
ERLIN2 0 1 0 1
ESPN 0 0 1 1
ETFA 0 0 1 1
ETHE1 0 1 0 1
EXOSC2 0 0 1 1
EXOSC3 1 0 0 1
EXT1 0 1 0 1
EYS 1 0 0 1
FA2H, LOC130059394 0 0 1 1
FANCG 0 1 0 1
FBLN5 0 0 1 1
FBN1 0 1 0 1
FBN1, LOC126862124 0 1 0 1
FBN2 0 0 1 1
FBXL4 0 0 1 1
FERMT1 0 1 0 1
FGFR3 1 0 0 1
FKBP10 1 0 0 1
FKRP, LOC130064775, STRN4 0 0 1 1
FLNB 0 1 0 1
FLNC 1 0 0 1
FOXG1 1 0 0 1
FREM1 0 1 0 1
FUCA1 1 0 0 1
FUS 1 0 0 1
FYCO1 0 1 0 1
GALC 1 0 0 1
GAMT 1 0 0 1
GAREM2, HADHA 0 1 0 1
GBA2 0 1 0 1
GCH1 0 1 0 1
GFER 1 0 0 1
GIPC3 0 1 0 1
GLI3 1 0 0 1
GNB5 0 1 0 1
GPHN, RDH12, ZFYVE26 0 1 0 1
GRM1 0 0 1 1
GYG1 0 1 0 1
HACE1 0 1 0 1
HADHA 0 1 0 1
HARS1, HARS2, LOC129994848 0 0 1 1
HECW2 0 1 0 1
HEXB 1 0 0 1
HJV 0 1 0 1
HPS6 0 1 0 1
HSD17B4 0 1 0 1
HSPG2 0 1 0 1
ISCU 0 0 1 1
ITGA7 0 1 0 1
ITGB4 0 1 0 1
ITPR1 0 1 0 1
ITPR3 0 0 1 1
KAT6B 1 0 0 1
KCNC3 1 0 0 1
KIF1C, LOC126862473 1 0 0 1
KISS1R 0 1 0 1
KMT2D 1 0 0 1
KRT14 1 0 0 1
KRT17 1 0 0 1
L2HGDH 0 1 0 1
LAMC2 0 1 0 1
LHFPL5 0 1 0 1
LMNA, LOC129931597 1 0 0 1
LOC101928008, SBF2 0 0 1 1
LOC105369149, SBF2 0 0 1 1
LOC111811965, MIR4733HG, NF1 1 0 0 1
LOC126806422, TTN 0 0 1 1
LOC126861615, PAH 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 1
LOC126861898, MYH7 0 0 1 1
LOC126862500, MYH2, MYHAS 0 0 1 1
LOC126862983, MGME1 1 0 0 1
LOC129992585, SGCB 0 1 0 1
LOC129994740, REEP2 0 0 1 1
LOC130001681, SIGMAR1 0 1 0 1
LOC130005097, PNPLA2 0 1 0 1
LOC130056175, POMT2 0 1 0 1
LOC130059818, SPG7 0 1 0 1
LOC130059891, SERPINF1 0 1 0 1
LOC130067864, TYMP 1 0 0 1
LPIN1 0 1 0 1
LRAT 1 0 0 1
LRSAM1 0 0 1 1
LYSET 0 1 0 1
MAG 0 0 1 1
MAPT 0 0 1 1
MARS1 0 0 1 1
MARVELD2 1 0 0 1
MASP2, TARDBP 0 1 0 1
MCPH1 0 1 0 1
MFSD8 0 1 0 1
MHRT, MYH7 0 0 1 1
MITF 1 0 0 1
MKKS 0 1 0 1
MLC1 1 0 0 1
MMACHC 1 0 0 1
MOCS2 0 1 0 1
MORC2 1 0 0 1
MPV17 0 0 1 1
MPV17, TRIM54, UCN 0 1 0 1
MTHFR 1 0 0 1
MTM1 0 1 0 1
MTO1 0 0 1 1
MYH2, MYHAS 0 0 1 1
MYO18B 0 0 1 1
MYO6 0 1 0 1
MYO9B 0 1 0 1
MYOT, PKD2L2-DT 0 0 1 1
NAGLU 0 1 0 1
NBN 0 1 0 1
NCAPH2, SCO2 0 0 1 1
NCSTN 1 0 0 1
NEK1 0 0 1 1
NIN 0 0 1 1
NTNG2 0 1 0 1
OPA1 0 0 1 1
OPHN1 0 1 0 1
OPTN 0 1 0 1
PAH 1 0 0 1
PCCB 1 0 0 1
PCDH15 0 1 0 1
PCYT2 0 0 1 1
PDE6B 0 1 0 1
PDE6C 0 1 0 1
PDHA1 1 0 0 1
PDK3 0 1 0 1
PDZD7 0 1 0 1
PEX1 1 0 0 1
PEX2 0 1 0 1
PEX5 0 1 0 1
PEX7 0 1 0 1
PGM1 0 1 0 1
PHKA1 0 0 1 1
PI4KA 0 0 1 1
PIGG 0 1 0 1
PIGN 0 0 1 1
PITRM1 0 0 1 1
PJVK 1 0 0 1
PKDCC 0 1 0 1
PLIN4 0 0 1 1
PNPLA1 0 1 0 1
PNPLA6 0 0 1 1
POMGNT1 1 0 0 1
POPDC1, POPDC3 0 0 1 1
POU3F4 0 1 0 1
PPOX 0 1 0 1
PPT1 0 1 0 1
PRG4 0 1 0 1
PRKCG 0 0 1 1
PRPH, TROAP 0 0 1 1
PTRH2 0 1 0 1
PURA 0 1 0 1
PUS1 1 0 0 1
PYCR1 1 0 0 1
PYROXD1 1 0 0 1
RAB3GAP2 0 1 0 1
RAG2 0 1 0 1
RBCK1 1 0 0 1
RBM10 0 1 0 1
RD3 1 0 0 1
RETREG1 1 0 0 1
RLBP1 0 1 0 1
RMND1 0 1 0 1
RNASEH1 0 0 1 1
RNASEH2B 1 0 0 1
RNASEH2C 1 0 0 1
RPGRIP1L 1 0 0 1
RPS24 0 1 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 1
RTN2 0 0 1 1
RUBCN 0 0 1 1
SBF1 0 0 1 1
SCN2A 0 1 0 1
SDHA 0 0 1 1
SERPINI1 0 1 0 1
SETBP1 1 0 0 1
SGSH 1 0 0 1
SIL1 0 1 0 1
SLC12A1 1 0 0 1
SLC19A2 1 0 0 1
SLC22A5 0 1 0 1
SLC29A3 0 1 0 1
SLC33A1 0 0 1 1
SLC52A3 0 0 1 1
SMC1A 0 1 0 1
SMN1 0 1 0 1
SMPD1 0 1 0 1
SNX14 0 1 0 1
SPG21 0 1 0 1
SPTA1 0 1 0 1
SRCAP 0 1 0 1
SRD5A2 0 1 0 1
SYNE2 0 0 1 1
SYT2 0 0 1 1
SZT2 0 0 1 1
TANGO2 1 0 0 1
TAPBPL, VAMP1 0 1 0 1
TBCEL-TECTA, TECTA 0 1 0 1
TBK1 0 1 0 1
TBX4 1 0 0 1
TCIRG1 0 1 0 1
TFG 0 0 1 1
TIA1 0 0 1 1
TMC1 1 0 0 1
TMEM216 0 1 0 1
TMEM67 1 0 0 1
TMEM94 0 1 0 1
TMIE 0 1 0 1
TMPRSS6 0 1 0 1
TMX2, TMX2-CTNND1 0 1 0 1
TPM1 0 1 0 1
TPM3 0 0 1 1
TPRN 0 1 0 1
TRMT10A 0 1 0 1
TSC2 1 0 0 1
TSEN54 1 0 0 1
TTPA 0 1 0 1
TTR 1 0 0 1
TUBA1A 0 1 0 1
TUBA4A 0 0 1 1
TUBB4A 1 0 0 1
TULP1 1 0 0 1
TUSC3 0 1 0 1
UBA1 0 0 1 1
VCP 0 0 1 1
VLDLR 1 0 0 1
VPS13A 0 1 0 1
VWF 1 0 0 1
WAS 0 1 0 1
WASHC5 0 1 0 1
WDR62 1 0 0 1
WDR73 0 1 0 1
WNK1 1 0 0 1
ZEB2 1 0 0 1
ZFR 0 0 1 1
ZIC2 1 0 0 1

Condition and significance breakdown #

Total conditions: 379
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Abnormality of the musculature 74 97 0 171
not provided 8 26 103 137
Abnormality of the nervous system 62 70 0 132
Ear malformation 23 31 0 54
Abnormality of the skin 21 20 0 41
Abnormality of metabolism/homeostasis 16 22 0 38
Abnormal central motor function 18 18 0 36
Autosomal recessive limb-girdle muscular dystrophy type 2A 14 11 3 28
Peripheral neuropathy 8 17 1 26
Abnormality of the eye 10 11 0 21
Abnormality of the skeletal system 4 16 0 20
Duchenne muscular dystrophy 9 7 0 16
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 4 8 15
Autosomal recessive limb-girdle muscular dystrophy type 2D 3 4 5 12
Congenital myotonia, autosomal recessive form 4 7 1 12
Nemaline myopathy 2 2 6 4 12
Abnormality of prenatal development or birth 6 4 0 10
Abnormality of blood and blood-forming tissues 3 6 0 9
Charlevoix-Saguenay spastic ataxia 1 4 4 9
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 4 2 3 9
Multiple acyl-CoA dehydrogenase deficiency 1 6 2 9
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 1 4 3 8
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B 2 5 1 8
Amyotrophic lateral sclerosis type 1 2 4 1 7
Autosomal recessive limb-girdle muscular dystrophy type 2C 2 3 2 7
Charcot-Marie-Tooth disease axonal type 2T 1 3 2 6
Charcot-Marie-Tooth disease type 4B2 0 3 3 6
Charcot-Marie-Tooth disease type 4C 4 2 0 6
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 0 6 6
GNE myopathy 2 4 0 6
Glycogen storage disease, type II 5 1 0 6
Hereditary spastic paraplegia 11 2 3 1 6
Hereditary spastic paraplegia 7 2 4 0 6
Merosin deficient congenital muscular dystrophy 5 1 0 6
Neurodevelopmental delay 0 1 5 6
Urogenital tract malformation 3 3 0 6
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 2 2 1 5
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 0 3 2 5
Congenital myasthenic syndrome 12 0 1 4 5
Congenital myasthenic syndrome 5 0 3 2 5
Glycogen storage disease type III 1 4 0 5
Autosomal recessive ataxia, Beauce type 2 1 1 4
Charcot-Marie-Tooth disease X-linked dominant 1 2 1 1 4
Charcot-Marie-Tooth disease type 4B1 0 2 2 4
Congenital myasthenic syndrome 10 2 2 0 4
Congenital myopathy 20 0 0 4 4
Eichsfeld type congenital muscular dystrophy 1 2 1 4
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 1 2 1 4
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 0 4 4
Neuronopathy, distal hereditary motor, autosomal recessive 5 1 3 0 4
Abnormality of connective tissue 1 2 0 3
Amyotrophic lateral sclerosis type 10 2 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 1 1 3
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 1 2 3
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 1 2 3
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 0 2 1 3
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 2 1 3
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 1 1 1 3
Bethlem myopathy 1B 0 2 1 3
Brown-Vialetto-van Laere syndrome 2 0 2 1 3
Cerebellar ataxia 2 0 1 3
Charcot-Marie-Tooth disease type 2A1 0 0 3 3
Charcot-Marie-Tooth disease type 4D 0 2 1 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 0 1 2 3
Glycogen storage disease, type V 0 1 2 3
Hereditary spastic paraplegia 15 0 3 0 3
Mitochondrial DNA depletion syndrome 1 1 1 1 3
Muscular dystrophy, limb-girdle, autosomal dominant 4 1 1 1 3
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 0 3 3
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 1 2 0 3
Nemaline myopathy 10 0 1 2 3
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 1 1 3
Spinocerebellar ataxia 49 0 1 2 3
Very long chain acyl-CoA dehydrogenase deficiency 2 1 0 3
Agenesis of the corpus callosum with peripheral neuropathy 0 1 1 2
Amyotrophic lateral sclerosis type 5 0 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2R1 0 1 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2W 0 0 2 2
Autosomal recessive spastic paraplegia type 76 1 0 1 2
Bethlem myopathy 1A 0 0 2 2
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 0 0 2 2
Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 0 2 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 0 2 2
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 2 2
Charcot-Marie-Tooth disease axonal type 2F 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2F; Neuronopathy, distal hereditary motor, type 2B 0 2 0 2
Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 2 2
Charcot-Marie-Tooth disease type 2I 1 1 0 2
Charcot-Marie-Tooth disease type 4H 1 0 1 2
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 1 1 0 2
Charcot-Marie-Tooth disease, type IA 0 1 1 2
Congenital disorder of deglycosylation 0 1 1 2
Congenital multicore myopathy with external ophthalmoplegia 0 2 0 2
Congenital myasthenic syndrome 3A; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C 1 0 1 2
Congenital myasthenic syndrome 8 0 0 2 2
Congenital myopathy 0 0 2 2
Desmin-related myofibrillar myopathy 1 1 0 2
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 0 2 0 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 1 0 2
Hereditary spastic paraplegia 10 0 1 1 2
Hereditary spastic paraplegia 17; Neuronopathy, distal hereditary motor, type 5C 0 1 1 2
Hereditary spastic paraplegia 4 2 0 0 2
Hereditary spastic paraplegia 43 0 1 1 2
Intellectual disability 0 0 2 2
MYPN-related myopathy 1 1 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 1 2
Mitochondrial DNA depletion syndrome, myopathic form; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 1 1 2
Miyoshi muscular dystrophy 1 1 0 1 2
Myasthenic syndrome, congenital, 1B, fast-channel 0 1 1 2
Myofibrillar myopathy 7 0 1 1 2
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C 0 1 1 2
Neuronopathy, distal hereditary motor, autosomal recessive 4 0 0 2 2
Neuronopathy, distal hereditary motor, type 2B 1 1 0 2
Neuronopathy, distal hereditary motor, type 5C 1 0 1 2
Neuropathy, hereditary sensory and autonomic, type 1A 0 0 2 2
Neutral lipid storage myopathy 1 0 1 2
Peripheral axonal neuropathy 0 0 2 2
Proximal myopathy with extrapyramidal signs 2 0 0 2
Rod-cone dystrophy 0 2 0 2
Sarcotubular myopathy 0 2 0 2
Sensorineural hearing loss disorder 1 0 1 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 1 1 2
Spinocerebellar ataxia type 35 0 1 1 2
Spinocerebellar ataxia, autosomal recessive 22 0 0 2 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 2 2
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q 0 1 0 1
Abnormality of the cardiovascular system 1 0 0 1
Abnormality of the mitochondrion 1 0 0 1
Actin accumulation myopathy; Congenital myopathy 4A, autosomal dominant; Progressive scapulohumeroperoneal distal myopathy 0 1 0 1
Adult polyglucosan body disease 0 0 1 1
Alzheimer disease 3; Frontotemporal dementia; Pick disease 1 0 0 1
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 0 0 1 1
Amyotrophic lateral sclerosis 27, juvenile 0 0 1 1
Amyotrophic lateral sclerosis type 11 0 0 1 1
Amyotrophic lateral sclerosis type 12 0 1 0 1
Amyotrophic lateral sclerosis type 16 0 0 1 1
Amyotrophic lateral sclerosis type 19 0 1 0 1
Amyotrophic lateral sclerosis type 1; Neuronopathy, distal hereditary motor, type 7B 0 1 0 1
Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axial hypotonia, progressive 1 0 0 1
Amyotrophic lateral sclerosis type 22 0 0 1 1
Amyotrophic lateral sclerosis type 4 0 0 1 1
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 1 1
Amyotrophic lateral sclerosis type 5; Charcot-Marie-Tooth disease axonal type 2X 0 0 1 1
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11 0 0 1 1
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 0 0 1
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 1 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 0 1 1
Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 1 1
Arthrogryposis multiplex congenita 3, myogenic type 0 1 0 1
Arts syndrome; Charcot-Marie-Tooth disease X-linked recessive 5 0 1 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 1 0 1
Ataxia-telangiectasia syndrome 0 1 0 1
Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 0 1 1
Autosomal dominant centronuclear myopathy 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 1 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 0 1
Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 0 1 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 1
Autosomal recessive axonal neuropathy with neuromyotonia 0 1 0 1
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 1 1
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 0 0 1 1
Autosomal recessive distal spinal muscular atrophy 2 0 0 1 1
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 15 0 1 0 1
Autosomal recessive spastic paraplegia type 78 0 0 1 1
Autosomal recessive spinocerebellar ataxia 10 0 0 1 1
Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 0 0 1 1
Autosomal recessive spinocerebellar ataxia 15 0 0 1 1
Autosomal recessive spinocerebellar ataxia 16 0 0 1 1
Autosomal recessive spinocerebellar ataxia 20 0 1 0 1
Bardet-Biedl syndrome 0 0 1 1
Bethlem myopathy 1C 0 0 1 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2 0 0 1 1
Brown-Vialetto-van Laere syndrome 1 0 0 1 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 1 1
Carnitine palmitoyl transferase II deficiency, myopathic form 0 0 1 1
Central core myopathy 0 1 0 1
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 0 1 0 1
Central core myopathy; King Denborough syndrome 0 1 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 0 1 0 1
Charcot-Marie-Tooth disease 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2S 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2X 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2Z 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 1
Charcot-Marie-Tooth disease recessive intermediate C 0 0 1 1
Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease 0 0 1 1
Charcot-Marie-Tooth disease type 1E 0 0 1 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 1
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 1 0 0 1
Charcot-Marie-Tooth disease type 2B1 0 0 1 1
Charcot-Marie-Tooth disease type 2B1; Mandibuloacral dysplasia with type A lipodystrophy; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 1 0 1
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay 0 0 1 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 1B 0 1 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2 0 1 0 1
Charcot-Marie-Tooth disease type 4B3 0 0 1 1
Charcot-Marie-Tooth disease type 4F 0 0 1 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 1 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 1 0 0 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital muscular dystrophy 0 0 1 1
Congenital muscular dystrophy due to LMNA mutation 0 0 1 1
Congenital myasthenic syndrome 0 0 1 1
Congenital myasthenic syndrome 11 0 1 0 1
Congenital myasthenic syndrome 13 0 0 1 1
Congenital myasthenic syndrome 19 0 1 0 1
Congenital myasthenic syndrome 21 0 0 1 1
Congenital myasthenic syndrome 3A; Congenital myasthenic syndrome 3C 0 0 1 1
Congenital myasthenic syndrome 4A 1 0 0 1
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4B 1 0 0 1
Congenital myasthenic syndrome 4B 0 1 0 1
Congenital myasthenic syndrome 4C 0 0 1 1
Congenital myopathy 10b, mild variant 0 0 1 1
Congenital myopathy with internal nuclei and atypical cores 0 0 1 1
Congenital myotonia, autosomal dominant form 1 0 0 1
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F 1 0 0 1
Demyelinating peripheral neuropathy 0 0 1 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 0 1 1
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 0 1 0 1
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 1 0 1
Distal arthrogryposis type 5D 0 0 1 1
Distal myopathy with anterior tibial onset 1 0 0 1
Dysostosis multiplex, Ain-Naz type 0 1 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 0 1 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 1 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 1 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy 1 0 0 1
Facioscapulohumeral muscular dystrophy 2 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 1
Frontotemporal dementia; Supranuclear palsy, progressive, 1 0 0 1 1
GNE myopathy; Sialuria 0 1 0 1
Giant axonal neuropathy 1 0 0 1 1
Glycogen storage disease IXd 0 0 1 1
Gordon syndrome 0 0 1 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 0 1 0 1
Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA 1 0 0 1
Hereditary motor and sensory neuropathy, Okinawa type 0 0 1 1
Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 0 1 1
Hereditary sensory and autonomic neuropathy type 6 0 0 1 1
Hereditary spastic paraplegia 0 0 1 1
Hereditary spastic paraplegia 12 0 0 1 1
Hereditary spastic paraplegia 28 0 1 0 1
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30B, autosomal recessive 1 0 0 1
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 0 0 1 1
Hereditary spastic paraplegia 31; Neuronopathy, distal hereditary motor, type 5B 0 0 1 1
Hereditary spastic paraplegia 35 0 0 1 1
Hereditary spastic paraplegia 39 0 0 1 1
Hereditary spastic paraplegia 42 0 0 1 1
Hereditary spastic paraplegia 46 0 1 0 1
Hereditary spastic paraplegia 56 0 0 1 1
Hereditary spastic paraplegia 5A 1 0 0 1
Hereditary spastic paraplegia 62 0 0 1 1
Hereditary spastic paraplegia 63 0 0 1 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 1 0 1
Hereditary spastic paraplegia 75 0 0 1 1
Hereditary spastic paraplegia 8 0 1 0 1
Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 1 0 0 1
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 1 0 1
Hypomyelinating leukodystrophy 2; Hereditary spastic paraplegia 44 0 0 1 1
Hypotonia 1 0 0 1
Infantile onset spinocerebellar ataxia 0 1 0 1
Infantile-onset X-linked spinal muscular atrophy 0 0 1 1
Juvenile hemochromatosis 0 1 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 0 1 1
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 0 1 0 1
Lethal congenital contracture syndrome 4; Myopathy, congenital, with tremor 0 0 1 1
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 0 1 0 1
Leukemia, chronic lymphocytic, susceptibility to, 3; Charcot-Marie-Tooth disease type 4J 0 0 1 1
MYH7-related skeletal myopathy 0 0 1 1
Marinesco-Sjögren syndrome 0 1 0 1
Microcephaly; Spastic paraparesis; Neurodevelopmental abnormality 0 0 1 1
Mitochondrial DNA deletion syndrome with progressive myopathy; Seckel syndrome 8; Rothmund-Thomson syndrome type 4 0 1 0 1
Mitochondrial DNA depletion syndrome 11 1 0 0 1
Mitochondrial DNA depletion syndrome 13 0 0 1 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 0 1
Mitochondrial trifunctional protein deficiency 0 1 0 1
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 1 0 1
Miyoshi muscular dystrophy 3 0 1 0 1
Mucolipidosis type IV 0 0 1 1
Muscle weakness 0 0 1 1
Muscle weakness; Sensorimotor neuropathy 0 1 0 1
Muscular dystrophy 0 0 1 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 1
Muscular dystrophy, limb-girdle, autosomal recessive 26 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 1 0 1
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 1 0 1
Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 0 1 0 1
Myofibrillar myopathy 6 0 0 1 1
Myofibrillar myopathy 8 1 0 0 1
Myoglobinuria, acute recurrent, autosomal recessive 0 1 0 1
Myopathy 0 0 1 1
Myopathy, centronuclear, 2 0 1 0 1
Myopathy, distal, 5 0 1 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 1 1 0 0 1
Myopathy, myosin storage, autosomal recessive; MYH7-related skeletal myopathy 0 0 1 1
Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; MYH7-related skeletal myopathy 0 0 1 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 1
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy 0 1 0 1
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 0 0 1 1
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; X-linked scapuloperoneal muscular dystrophy 0 1 0 1
Nemaline myopathy 5 0 1 0 1
Nemaline myopathy 5C, autosomal dominant 0 1 0 1
Neonatal hypotonia 0 0 1 1
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 1
Neurodegeneration with brain iron accumulation 4; Hereditary spastic paraplegia 43 0 0 1 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 1 0 1
Neuronal ceroid lipofuscinosis 3 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 10 0 0 1 1
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 0 1 1
Neuropathy, hereditary sensory and autonomic, type 2A 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 1 0 0 1
Night blindness 1 0 0 1
Occipital encephalocele 1 0 0 1
Perrault syndrome 5 0 1 0 1
Polyglucosan body myopathy type 1 1 0 0 1
Polyglucosan body myopathy type 2 0 1 0 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive 0 0 1 1
Polyneuropathy 0 0 1 1
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 0 0 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 0 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 0 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 1 0 0 1
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 1 0 1
Psychomotor retardation 0 1 0 1
Sandhoff disease 1 0 0 1
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 0 1 1
Seckel syndrome 7 0 0 1 1
Seizure 0 1 0 1
Seizures, benign familial infantile, 3; Episodic ataxia, type 9 0 1 0 1
Severe X-linked mitochondrial encephalomyopathy 0 0 1 1
Severe X-linked myotubular myopathy 0 1 0 1
Sialuria 1 0 0 1
Spastic ataxia 1 0 1 0 1
Spastic paraplegia 82, autosomal recessive 0 0 1 1
Spinal muscular atrophy, type II; Werdnig-Hoffmann disease 0 1 0 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 0 0 1 1
Spinocerebellar ataxia 48 0 0 1 1
Spinocerebellar ataxia 50 0 1 0 1
Spinocerebellar ataxia type 13 1 0 0 1
Spinocerebellar ataxia type 14 0 0 1 1
Spinocerebellar ataxia type 28 0 1 0 1
Spinocerebellar ataxia type 6 0 0 1 1
Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 30 0 0 1 1
Tibial muscular dystrophy 0 1 0 1
Ullrich congenital muscular dystrophy 1A 0 1 0 1
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 1 0 0 1
Vacuolar Neuromyopathy 0 0 1 1
not specified 0 0 1 1

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